rs587783239

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GA;GA)	0	common in clinvar

Make rs587783239(-;-)

Make rs587783239(-;GA)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

197121931

Gene

ASPM

is a	snp
is	mentioned by
dbSNP	rs587783239
dbSNP (classic)	rs587783239
ClinGen	rs587783239
ebi	rs587783239
HLI	rs587783239
Exac	rs587783239
Gnomad	rs587783239
Varsome	rs587783239
LitVar	rs587783239
Map	rs587783239
PheGenI	rs587783239
Biobank	rs587783239
1000 genomes	rs587783239
hgdp	rs587783239
ensembl	rs587783239
geneview	rs587783239
scholar	rs587783239
google	rs587783239
pharmgkb	rs587783239
gwascentral	rs587783239
openSNP	rs587783239
23andMe	rs587783239
SNPshot	rs587783239
SNPdbe	rs587783239
MSV3d	rs587783239
GWAS Ctlg	rs587783239

Max Magnitude

0

ClinVar
Risk	rs587783239(-;-)
Alt	rs587783239(-;-)
Reference	Rs587783239(GA;GA)
Significance	Pathogenic
Disease	Primary autosomal recessive microcephaly 5
Variation	info
Gene	ASPM
CLNDBN	Primary autosomal recessive microcephaly 5
Reversed	1
HGVS	NC_000001.10:g.197091061_197091062delTC
CLNSRC
CLNACC	RCV000145122.1,